A recombination-based method to characterize human BRCA1 missense variants

Breast Cancer Research and Treatment

Volumn 125, Issue 1, 2011, Pages 265-272

  Guidugli, Lucia ^a   Rugani, Chiara ^a   Lombardi, Grazia ^a   Aretini, Paolo ^a   Galli, Alvaro ^b   Caligo, Maria Adelaide ^a  

^a UNIVERSITY HOSPITAL OF PISA   (Italy)

^b INSTITUTE OF CLINICAL PHYSIOLOGY   (Italy)

Author keywords

BRCA1; Breast cancer; Functional assay; Homologous recombination; Non homologous end joining; Unclassified variants

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; BRCA1 PROTEIN; CYSTEINE; DNA; HISTIDINE; ISOLEUCINE; METHIONINE; SERINE; THREONINE; TYROSINE;

ADULT; ARTICLE; BREAST CANCER; CONTROLLED STUDY; GENE CONVERSION; GENE FUNCTION; GENETIC VARIABILITY; HELA CELL; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; OVARY CANCER; PATHOGENICITY; PLASMID; PRIORITY JOURNAL; WILD TYPE;

BRCA1 PROTEIN; BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; MUTATION, MISSENSE; RECOMBINATION, GENETIC; TRANSFECTION;

EID: 78651072130     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-010-1112-8     Document Type: Article

References (33)

1. J Chen DP Silver D Walpita SB Cantor AF Gazdar G Tomlinson FJ Couch BL Weber T Ashley DM Livingston R Scully 1998 Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells Mol Cell 2 3 317 328 S1097-2765(00)80276-2 1:CAS:528:DyaK1cXmsVyqtL4%3D 10.1016/S1097-2765(00)80276-2 9774970
2. R Scully J Chen A Plug Y Xiao D Weaver J Feunteun T Ashley DM Livingston 1997 Association of BRCA1 with RAD51 in mitotic and meiotic cells Cell 88 2 265 275 S0092-8674(00)81847-4[pii] 1:CAS:528:DyaK2sXpsFSnuw%3D%3D 10.1016/S0092-8674(00)81847-4 9008167 (Pubitemid 28015875)
3. W Wu A Koike T Takeshita T Ohta 2008 The ubiquitin E3 ligase activity of BRCA1 and its biological functions Cell Div 3 1 10.1186/1747-1028-3-1 1:CAS:528:DC%2BD1cXovVSnsrg%3D 10.1186/1747-1028-3-1 18179693 (Pubitemid 351325350)
4. DE Goldgar DF Easton AM Deffenbaugh AN Monteiro SV Tavtigian FJ Couch 2004 Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2 Am J Hum Genet 75 4 535 544 10.1086/424388S0002-9297(07)62706-2 1:CAS:528:DC%2BD2cXnvFaktLg%3D 10.1086/424388 15290653
5. V Abkevich A Zharkikh AM Deffenbaugh D Frank Y Chen D Shattuck MH Skolnick A Gutin SV Tavtigian 2004 Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation J Med Genet 41 7 492 507 1:CAS:528:DC%2BD2cXmvVymsLc%3D 10.1136/jmg.2003.015867 15235020
6. N Mirkovic MA Marti-Renom BL Weber A Sali AN Monteiro 2004 Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition Cancer Res 64 11 3790 3797 10.1158/0008-5472.CAN-03-300964/11/3790[pii] 1:CAS:528:DC%2BD2cXksVKgu78%3D 10.1158/0008-5472.CAN-03-3009 15172985
7. FJ Couch LJ Rasmussen R Hofstra AN Monteiro MS Greenblatt N de Wind IARC Unclassified Genetic Variants Working Group 2008 Assessment of functional effects of unclassified genetic variants Hum Mutat 29 11 1314 1326 1:CAS:528:DC%2BD1cXhsFSjsLnK 10.1002/humu.20899 18951449
8. CX Deng 2006 BRCA1: cell cycle checkpoint, genetic instability, DNA damage response and cancer evolution Nucleic Acids Res 34 5 1416 1426 34/5/141610.1093/nar/gkl010 1:CAS:528:DC%2BD28XjtFSrs74%3D 10.1093/nar/gkl010 16522651
9. R Hakem JL de la Pompa C Sirard R Mo M Woo A Hakem A Wakeham J Potter A Reitmair F Billia E Firpo CC Hui J Roberts J Rossant TW Mak 1996 The tumor suppressor gene BRCA1 is required for embryonic cellular proliferation in the mouse Cell 85 7 1009 1023 S0092-8674(00)81302-1 1:CAS:528:DyaK28XjvF2iu74%3D 10.1016/S0092-8674(00)81302-1 8674108 (Pubitemid 26231168)
10. Q Zhong CF Chen S Li Y Chen CC Wang J Xiao PL Chen ZD Sharp WH Lee 1999 Association of BRCA1 with the hrad50-hmre11-p95 complex and the DNA damage response Science 285 5428 747 750 1:CAS:528:DyaK1MXltVeht74%3D 10.1126/science.285.5428.747 10426999 (Pubitemid 29484545)
11. DT Bau YP Fu ST Chen TC Cheng JC Yu PE Wu CY Shen 2004 Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining genes are affected by BRCA1 Cancer Res 64 14 5013 5019 1:CAS:528:DC%2BD2cXls1Omt7c%3D 10.1158/0008-5472.CAN-04-0403 15256476 (Pubitemid 38924550)
12. Q Zhong CF Chen PL Chen WH Lee 2002 BRCA1 facilitates microhomology-mediated end joining of DNA double strand breaks J Biol Chem 277 32 28641 28647 10.1074/jbc.M200748200M200748200 1:CAS:528:DC%2BD38XmsVGqtL0%3D 10.1074/jbc.M200748200 12039951
13. JN Snouwaert LC Gowen AM Latour AR Mohn A Xiao L DiBiase BH Koller 1999 BRCA1 deficient embryonic stem cells display a decreased homologous recombination frequency and an increased frequency of non-homologous recombination that is corrected by expression of a BRCA1 transgene Oncogene 18 55 7900 7907 10.1038/sj.onc.1203334 1:CAS:528:DC%2BD3cXks1Klsg%3D%3D 10.1038/sj.onc.1203334 10630642
14. PC Ng S Henikoff 2003 SIFT: predicting amino acid changes that affect protein function Nucleic Acids Res 31 13 3812 3814 1:CAS:528: DC%2BD3sXltVWjs7s%3D 10.1093/nar/gkg509 12824425 (Pubitemid 37442253)
15. V Ramensky P Bork S Sunyaev 2002 Human non-synonymous snps: server and survey Nucleic Acids Res 30 17 3894 3900 1:CAS:528:DC%2BD38Xms1Klt7k%3D 10.1093/nar/gkf493 12202775
16. SV Tavtigian AM Deffenbaugh L Yin T Judkins T Scholl PB Samollow D de Silva A Zharkikh A Thomas 2006 Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral J Med Genet 43 4 295 305 jmg.2005.033878[pii]10.1136/jmg.2005.033878 1:CAS:528:DC%2BD28XktlymtL4%3D 10.1136/jmg.2005.033878 16014699
17. C Ciotta S Ceccotti G Aquilina O Humbert F Palombo J Jiricny M Bignami 1998 Increased somatic recombination in methylation tolerant human cells with defective DNA mismatch repair J Mol Biol 276 4 705 719 S0022-2836(97)91559- X[pii]10.1006/jmbi.1997.1559 1:CAS:528:DyaK1cXit1ertbg%3D 10.1006/jmbi.1997.1559 9500919 (Pubitemid 28122284)
18. NA Franken HM Rodermond J Stap J Haveman C van Bree 2006 Clonogenic assay of cells in vitro Nat Protoc 1 5 2315 2319 nprot.2006.339[pii]10.1038/nprot. 2006.339 1:CAS:528:DC%2BD2sXhtFGjtLnI 10.1038/nprot.2006.339 17406473
19. C Di Primio A Galli T Cervelli M Zoppe G Rainaldi 2005 Potentiation of gene targeting in human cells by expression of saccharomyces cerevisiae rad52 Nucleic Acids Res 33 14 4639 4648 33/14/4639[pii]10.1093/nar/gki778 1:CAS:528:DC%2BD2MXovVKqtLk%3D 10.1093/nar/gki778 16106043 (Pubitemid 41222578)
20. RS Williams JN Glover 2003 Structural consequences of a cancer-causing BRCA1-brct missense mutation J Biol Chem 278 4 2630 2635 10.1074/jbc. M210019200M210019200 1:CAS:528:DC%2BD3sXksFaltA%3D%3D 10.1074/jbc.M210019200 12427738
21. MA Carvalho SM Marsillac R Karchin S Manoukian S Grist RF Swaby TP Urmenyi E Rondinelli R Silva L Gayol L Baumbach R Sutphen JL Pickard-Brzosowicz KL Nathanson A Sali D Goldgar FJ Couch P Radice AN Monteiro 2007 Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis Cancer Res 67 4 1494 1501 67/4/1494[pii]10.1158/0008-5472.CAN-06-3297 1:CAS:528:DC%2BD2sXhvVWqsrc%3D 10.1158/0008-5472.CAN-06-3297 17308087 (Pubitemid 46383373)
22. T Judkins BC Hendrickson AM Deffenbaugh K Eliason B Leclair MJ Norton BE Ward D Pruss T Scholl 2005 Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations Cancer Res 65 21 10096 10103 65/21/10096[pii]10.1158/0008-5472.CAN-05-1241 1:CAS:528:DC%2BD2MXhtFKkt7rF 10.1158/0008-5472.CAN-05-1241 16267036 (Pubitemid 41541492)
23. DE Goldgar DF Easton GB Byrnes AB Spurdle ES Iversen MS Greenblatt 2008 Genetic evidence and integration of various data sources for classifying uncertain variants into a single model Hum Mutat 29 11 1265 1272 10.1002/humu.20897 10.1002/humu.20897 18951437
24. SV Tavtigian MS Greenblatt DE Goldgar P Boffetta 2008 Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group Hum Mutat 29 11 1261 1264 10.1002/humu.20903 1:CAS:528: DC%2BD1cXhsFSjsLnN 10.1002/humu.20903 18951436
25. G Chenevix-Trench S Healey S Lakhani P Waring M Cummings R Brinkworth AM Deffenbaugh LA Burbidge D Pruss T Judkins T Scholl A Bekessy A Marsh P Lovelock M Wong A Tesoriero H Renard M Southey JL Hopper K Yannoukakos M Brown D Easton SV Tavtigian D Goldgar AB Spurdle 2006 Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance Cancer Res 66 4 2019 2027 66/4/2019[pii]10.1158/0008-5472.CAN-05-3546 1:CAS:528:DC%2BD28XhsFamu74%3D 10.1158/0008-5472.CAN-05-3546 16489001
26. AR Venkitaraman 2009 Linking the cellular functions of BRCA genes to cancer pathogenesis and treatment Annu Rev Pathol 4 461 487 10.1146/annurev. pathol.3.121806.151422 1:CAS:528:DC%2BD1MXis1ahsro%3D 10.1146/annurev.pathol.3. 121806.151422 18954285
27. CM Phelan V Dapic B Tice R Favis E Kwan F Barany S Manoukian P Radice RB van der Luijt BP van Nesselrooij G Chenevix-Trench K ConFab T Caldes M de la Hoya S Lindquist SV Tavtigian D Goldgar A Borg SA Narod AN Monteiro 2005 Classification of BRCA1 missense variants of unknown clinical significance J Med Genet 42 2 138 146 42/2/138[pii]10.1136/jmg.2004.024711 1:CAS:528: DC%2BD2MXitFGms7c%3D 10.1136/jmg.2004.024711 15689452 (Pubitemid 40204368)
28. A Galli RH Schiestl 1996 Effects of salmonella assay negative and positive carcinogens on intrachromosomal recombination in G1-arrested yeast cells Mutat Res 370 3-4 209 221 1:CAS:528:DyaK28Xmt1alurg%3D 8917668
29. A Galli RH Schiestl 1995 Salmonella test positive and negative carcinogens show different effects on intrachromosomal recombination in G2 cell cycle arrested yeast cells Carcinogenesis 16 3 659 663 1:CAS:528: DyaK2MXkvV2js7k%3D 10.1093/carcin/16.3.659 7697829
30. MA Caligo F Bonatti L Guidugli P Aretini A Galli 2009 A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance Hum Mutat 30 1 123 133 10.1002/humu.20817 1:CAS:528:DC%2BD1MXivFygtr8%3D 10.1002/humu.20817 18680205
31. Z Mao M Bozzella A Seluanov V Gorbunova 2008 Comparison of nonhomologous end joining and homologous recombination in human cells DNA Repair 7 10 1765 1771 1:CAS:528:DC%2BD1cXhtFCrsrvN 10.1016/j.dnarep.2008.06.018 18675941
32. Q Zhong TG Boyer PL Chen WH Lee 2002 Deficient nonhomologous end-joining activity in cell-free extracts from BRCA1-null fibroblasts Cancer Res 62 14 3966 3970 1:CAS:528:DC%2BD38XlsV2ls7c%3D 12124328
33. C Baldeyron E Jacquemin J Smith C Jacquemont I De Oliveira S Gad J Feunteun D Stoppa-Lyonnet D Papadopoulo 2002 A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining Oncogene 21 9 1401 1410 10.1038/sj.onc.1205200 1:CAS:528:DC%2BD38XitFCltb0%3D 10.1038/sj.onc.1205200 11857083